Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008].

ATP binding cassette subfamily B member 4MIM:171060Ensembl:ENSG00000005471HGNC:HGNC:45PA2687q21.12

GO terms in ABCB4

Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0001666response to hypoxia
BPIEAGO:0001890placenta development
BPTASGO:0006629lipid metabolic process
BPIEAGO:0006855drug transmembrane transport
BPIEAGO:0007420brain development
BPIEAGO:0007623circadian rhythm
BPIEAGO:0009914hormone transport
BPTASGO:0019216regulation of lipid metabolic process
BPIDAGO:0032376positive regulation of cholesterol transport
BPIMPGO:0032376positive regulation of cholesterol transport
BPIEAGO:0032496response to lipopolysaccharide
BPISSGO:0032782bile acid secretion
BPIEAGO:0033189response to vitamin A
BPIEAGO:0033231carbohydrate export
BPIEAGO:0033280response to vitamin D
BPIEAGO:0033762response to glucagon
BPIEAGO:0035633maintenance of permeability of blood-brain barrier
BPIEAGO:0036146cellular response to mycotoxin
BPTASGO:0042493response to drug
BPIEAGO:0042908xenobiotic transport
BPIEAGO:0043215daunorubicin transport
BPIEAGO:0043278response to morphine
BPIDAGO:0045332phospholipid translocation
BPIMPGO:0045332phospholipid translocation
BPIEAGO:0046618drug export
BPIEAGO:0046686response to cadmium ion
BPIEAGO:0050892intestinal absorption
BPTASGO:0055085transmembrane transport
BPIDAGO:0055088lipid homeostasis
BPIEAGO:0060548negative regulation of cell death
BPIEAGO:0060856establishment of blood-brain barrier
BPIDAGO:0061092positive regulation of phospholipid translocation
BPIEAGO:0071217cellular response to external biotic stimulus
BPIEAGO:0071236cellular response to antibiotic
BPIEAGO:0071312cellular response to alkaloid
BPIEAGO:0071392cellular response to estradiol stimulus
BPIEAGO:0071475cellular hyperosmotic salinity response
BPIEAGO:0071549cellular response to dexamethasone stimulus
BPIEAGO:0097068response to thyroxine
BPIDAGO:0099040ceramide translocation
BPISSGO:1901557response to fenofibrate
BPIDAGO:1903413cellular response to bile acid
BPIEAGO:1903416response to glycoside
BPIEAGO:1904478regulation of intestinal absorption
BPIEAGO:1905231cellular response to borneol
BPIEAGO:1905232cellular response to L-glutamate
BPIEAGO:1905233response to codeine
BPIEAGO:1905235response to quercetin
BPIEAGO:1905237response to cyclosporin A
BPIEAGO:1990962drug transport across blood-brain barrier
BPIEAGO:1990963establishment of blood-retinal barrier
BPIEAGO:2001025positive regulation of response to drug
BPIDAGO:2001140positive regulation of phospholipid transport
BPIMPGO:2001140positive regulation of phospholipid transport
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCTASGO:0005887integral component of plasma membrane
CCIDAGO:0005925focal adhesion
CCIDAGO:0015629actin cytoskeleton
CCIDAGO:0016324apical plasma membrane
CCIEAGO:0030136clathrin-coated vesicle
CCIEAGO:0031526brush border membrane
CCIEAGO:0045121membrane raft
CCIEAGO:0046581intercellular canaliculus
CCHDAGO:0070062extracellular exosome
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFTASGO:0005548phospholipid transporter activity
MFIDAGO:0008525phosphatidylcholine transporter activity
MFIMPGO:0008525phosphatidylcholine transporter activity
MFIEAGO:0008559xenobiotic transmembrane transporting ATPase activity
MFIDAGO:0042626ATPase activity, coupled to transmembrane movement of substances
MFIMPGO:0042626ATPase activity, coupled to transmembrane movement of substances
MFIDAGO:0090554phosphatidylcholine-translocating ATPase activity
MFIMPGO:0090554phosphatidylcholine-translocating ATPase activity
MFIDAGO:0099038ceramide-translocating ATPase activity

Gene expression in normal tissue: ABCB4

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ABCB4

DatabasePathway IDPathway Des.
reactomeR-HSA-1989781PPARA activates gene expression
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-382556ABC-family proteins mediated transport
reactomeR-HSA-400206Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-5619084ABC transporter disorders
reactomeR-HSA-5619115Disorders of transmembrane transporters
reactomeR-HSA-5678771Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1
biocartamrppathwaymulti-drug resistance factors
kegghsa02010ABC transporters - Homo sapiens (human)
kegghsa04976Bile secretion - Homo sapiens (human)
wikipathwaysWP2797Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
wikipathwaysWP2879Farnesoid X Receptor Pathway
wikipathwaysWP2882Nuclear Receptors Meta-Pathway
wikipathwaysWP299Nuclear Receptors in Lipid Metabolism and Toxicity

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ABCB4